Variant report

Variant	rs6785698
Chromosome Location	chr3:119399941-119399942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr3:119399596-119400831	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr3:119399845-119400734	SK-N-SH	brain:	n/a	n/a
3	SMC3	chr3:119399496-119401312	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr3:119399867-119400648	A549	lung:	n/a	n/a
5	CTCF	chr3:119399920-119400070	AG04450	lung:	n/a	n/a
6	TCF12	chr3:119399900-119400590	SK-N-SH	brain:	n/a	chr3:119400286-119400293
7	FOXM1	chr3:119399904-119400559	GM12878	blood:	n/a	n/a
8	CTCF	chr3:119399906-119400552	K562	blood:	n/a	n/a
9	RAD21	chr3:119399917-119400693	HCT-116	colon:	n/a	n/a
10	CTCF	chr3:119399746-119400721	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119397978..119400630-chr3:119401218..119403216,2	MCF-7	breast:
2	chr3:119138626..119139712-chr3:119399725..119401267,5	MCF-7	breast:
3	chr3:119276867..119278435-chr3:119399645..119402371,2	MCF-7	breast:
4	chr3:119396379..119398214-chr3:119398308..119400262,2	MCF-7	breast:
5	chr3:119243377..119244472-chr3:119399849..119400744,3	MCF-7	breast:

No data

Variant related genes	Relation type
COX17	TF binding region
ENSG00000121594	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11720605	0.93[EUR][1000 genomes]
rs13062540	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13065543	0.82[ASN][1000 genomes]
rs13065893	0.95[ASN][1000 genomes]
rs1317259	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1880040	0.92[ASN][1000 genomes]
rs1880041	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046430	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2629395	0.94[ASN][1000 genomes]
rs2629397	0.93[EUR][1000 genomes]
rs2629409	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670296	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2688633	0.92[EUR][1000 genomes]
rs2692618	0.83[EUR][1000 genomes]
rs2698282	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3749416	0.95[ASN][1000 genomes]
rs3749417	0.95[ASN][1000 genomes]
rs3772134	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4327424	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687871	0.92[ASN][1000 genomes]
rs4688023	0.92[ASN][1000 genomes]
rs484809	0.91[ASN][1000 genomes]
rs523476	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552244	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs571352	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62265884	0.93[EUR][1000 genomes]
rs6438541	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6438542	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6782253	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6794484	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6794579	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807079	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs693397	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7613999	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7633444	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8007	0.91[ASN][1000 genomes]
rs940181	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1014394	chr3:119360506-119412275	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119396800-119400000	Weak transcription	Fetal Heart	heart
2	chr3:119399000-119400000	Weak transcription	GM12878-XiMat	blood

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